Mutagenetix > Incidental Mutations

Incidental Mutation 'R1484:C2cd3'

163315

Institutional Source

Beutler Lab

Gene Symbol

C2cd3

Ensembl Gene

ENSMUSG00000047248

Gene Name

C2 calcium-dependent domain containing 3

Synonyms

MMRRC Submission

039537-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100372233-100470152 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100440190 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1638 (R1638W)

Ref Sequence

ENSEMBL: ENSMUSP00000062637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051777] [ENSMUST00000098259] [ENSMUST00000120196]

Predicted Effect

probably damaging
Transcript: ENSMUST00000051777
AA Change: R1638W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248
AA Change: R1638W

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
C2	524	662	2.36e1	SMART
C2	790	899	3.73e0	SMART
C2	989	1129	1.47e1	SMART
C2	1182	1321	1.63e1	SMART
C2	1617	1724	1.43e-2	SMART
low complexity region	1892	1906	N/A	INTRINSIC
low complexity region	2037	2049	N/A	INTRINSIC
low complexity region	2110	2125	N/A	INTRINSIC
low complexity region	2180	2197	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098259
AA Change: R1638W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248
AA Change: R1638W

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
C2	524	662	2.36e1	SMART
C2	790	899	3.73e0	SMART
C2	989	1129	1.47e1	SMART
C2	1182	1321	1.63e1	SMART
C2	1617	1724	1.43e-2	SMART
low complexity region	1892	1906	N/A	INTRINSIC
low complexity region	2037	2049	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000119647
AA Change: R1260W

SMART Domains

Protein: ENSMUSP00000113360
Gene: ENSMUSG00000047248
AA Change: R1260W

Domain	Start	End	E-Value	Type
C2	61	199	2.36e1	SMART
C2	327	436	3.73e0	SMART
C2	526	666	1.47e1	SMART
C2	719	858	1.63e1	SMART
C2	1154	1261	1.43e-2	SMART
low complexity region	1429	1443	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120196
AA Change: R407W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113728
Gene: ENSMUSG00000047248
AA Change: R407W

Domain	Start	End	E-Value	Type
low complexity region	297	308	N/A	INTRINSIC
C2	415	553	1.5e-1	SMART
C2	681	790	2.4e-2	SMART
C2	880	1020	9.5e-2	SMART
C2	1073	1212	1.1e-1	SMART
C2	1508	1615	9e-5	SMART
low complexity region	1783	1797	N/A	INTRINSIC
low complexity region	1928	1940	N/A	INTRINSIC
low complexity region	2001	2016	N/A	INTRINSIC
low complexity region	2071	2087	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184779

Meta Mutation Damage Score

0.3552

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,479,778		noncoding transcript	Het
Acvr1	A	T	2: 58,479,889	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,643,447	I414V	probably benign	Het
Alox5	C	T	6: 116,454,167	C100Y	probably damaging	Het
Ano5	T	A	7: 51,566,320	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,403,271	V199M	probably damaging	Het
Arl13b	T	A	16: 62,806,636	Q234L	probably benign	Het
Atxn1	C	A	13: 45,557,576	E627*	probably null	Het
Bend3	T	C	10: 43,510,201	F197L	probably benign	Het
Brca1	A	T	11: 101,529,812	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,315,135	W381R	probably damaging	Het
Brwd1	A	C	16: 96,028,291		probably null	Het
C1s2	T	C	6: 124,625,645	I530V	possibly damaging	Het
Capns1	T	A	7: 30,194,086		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cep126	G	A	9: 8,100,553	T660I	possibly damaging	Het
Cep295	A	C	9: 15,334,784	I744R	probably damaging	Het
Chd3	T	C	11: 69,359,899	E668G	probably benign	Het
Chek2	A	G	5: 110,848,687	T172A	probably damaging	Het
Col6a4	A	G	9: 106,013,302		probably null	Het
Coq3	G	A	4: 21,900,291	V173I	probably benign	Het
Cyp4x1	A	T	4: 115,112,901	I343N	probably damaging	Het
D430042O09Rik	C	A	7: 125,816,571		probably benign	Het
Dnah7b	T	A	1: 46,137,543	D774E	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Esrra	T	C	19: 6,912,829	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,595,171	D421E	probably benign	Het
Gpr15	T	C	16: 58,718,574	N51D	probably damaging	Het
Gpr156	T	C	16: 37,992,196	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,346,495	G350D	probably damaging	Het
Ifih1	A	T	2: 62,610,558	N421K	probably benign	Het
Ilvbl	C	A	10: 78,576,730	T95K	probably damaging	Het
Itgb4	T	A	11: 115,999,799	D1104E	probably benign	Het
Lipf	A	T	19: 33,964,780	M37L	probably benign	Het
Lyst	T	A	13: 13,678,190	N2258K	probably benign	Het
Moxd1	A	G	10: 24,223,860	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,813,892		probably null	Het
Myo16	G	A	8: 10,560,145	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,300,810	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,200,939	F155L	probably damaging	Het
Nek4	A	T	14: 30,982,333	M602L	possibly damaging	Het
Nek9	A	G	12: 85,301,848	S971P	probably damaging	Het
Nfya	A	T	17: 48,393,542		probably benign	Het
Nrxn3	A	T	12: 89,254,777	N442I	probably damaging	Het
Nupl2	A	C	5: 24,178,077	K200N	probably benign	Het
Olfr1216	G	A	2: 89,013,369	R232*	probably null	Het
Olfr385	T	A	11: 73,589,361	I126L	possibly damaging	Het
Olfr850	G	A	9: 19,478,127	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,291,001	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779	P107A	probably damaging	Het
Plce1	C	T	19: 38,705,339	Q769*	probably null	Het
Plin2	C	T	4: 86,657,244	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712	E739*	probably null	Het
Ppp3cc	G	T	14: 70,240,948	N268K	probably damaging	Het
Prkag3	T	A	1: 74,740,760	D472V	probably damaging	Het
Ptch2	A	T	4: 117,110,849	D846V	probably damaging	Het
Rhob	A	T	12: 8,499,388	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,799,475	R777W	possibly damaging	Het
Sap130	T	A	18: 31,711,327	V850E	probably damaging	Het
Sema3a	T	G	5: 13,473,440	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,285	D64G	probably damaging	Het
Sgo2b	T	A	8: 63,931,473	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,491,239	Y31*	probably null	Het
Smchd1	A	T	17: 71,378,257	M1392K	probably benign	Het
Sobp	T	A	10: 43,160,831	N37I	probably damaging	Het
Spock3	G	T	8: 63,220,705	C142F	probably damaging	Het
Stx6	A	C	1: 155,177,904	S86R	probably benign	Het
Sult2a4	C	A	7: 13,909,801	M280I	probably benign	Het
Synm	A	T	7: 67,736,332	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,733,320	R195W	probably damaging	Het
Themis2	A	T	4: 132,792,485	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234	T890A	probably benign	Het
Traf7	T	A	17: 24,511,811	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,383,252	V289D	probably benign	Het
Tsr1	T	A	11: 74,902,088	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593	A33E	probably damaging	Het
Unc13d	C	A	11: 116,073,875	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,810,337	G3367*	probably null	Het
Vmn1r229	T	C	17: 20,814,529	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,200,515	G510V	probably damaging	Het
Vps4b	T	C	1: 106,779,982	E257G	probably damaging	Het
Vps72	T	C	3: 95,119,151	S136P	probably damaging	Het
Wdr36	T	C	18: 32,843,885	I181T	possibly damaging	Het
Wdr63	T	C	3: 146,097,241	D65G	probably benign	Het
Wfikkn1	C	T	17: 25,877,791	A520T	probably benign	Het

Other mutations in C2cd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:C2cd3	APN	7	100391128	missense	probably benign	0.14
IGL01420:C2cd3	APN	7	100454858	missense	probably benign	0.35
IGL01775:C2cd3	APN	7	100443431	missense	probably damaging	1.00
IGL01832:C2cd3	APN	7	100427214	missense	possibly damaging	0.94
IGL01883:C2cd3	APN	7	100374486	missense	possibly damaging	0.80
IGL02664:C2cd3	APN	7	100419715	missense	possibly damaging	0.67
IGL02697:C2cd3	APN	7	100427169	unclassified	probably benign
IGL02852:C2cd3	APN	7	100430189	missense	probably damaging	1.00
IGL03158:C2cd3	APN	7	100374476	missense	probably damaging	1.00
R0012:C2cd3	UTSW	7	100418522	missense	possibly damaging	0.52
R0012:C2cd3	UTSW	7	100418522	missense	possibly damaging	0.52
R0013:C2cd3	UTSW	7	100416062	missense	probably damaging	1.00
R0013:C2cd3	UTSW	7	100416062	missense	probably damaging	1.00
R0032:C2cd3	UTSW	7	100444445	unclassified	probably benign
R0032:C2cd3	UTSW	7	100444445	unclassified	probably benign
R0124:C2cd3	UTSW	7	100469518	missense	probably benign
R0387:C2cd3	UTSW	7	100422507	splice site	probably benign
R0522:C2cd3	UTSW	7	100395222	missense	probably benign	0.14
R1124:C2cd3	UTSW	7	100422681	missense	probably benign	0.00
R1533:C2cd3	UTSW	7	100406077	missense	possibly damaging	0.54
R1631:C2cd3	UTSW	7	100372497	critical splice donor site	probably null
R1875:C2cd3	UTSW	7	100407025	missense	possibly damaging	0.89
R2059:C2cd3	UTSW	7	100455493	unclassified	probably benign
R2060:C2cd3	UTSW	7	100454948	missense	probably damaging	1.00
R2348:C2cd3	UTSW	7	100413366	missense	probably damaging	1.00
R3103:C2cd3	UTSW	7	100395252	missense	possibly damaging	0.47
R3405:C2cd3	UTSW	7	100390166	missense	probably benign	0.01
R3687:C2cd3	UTSW	7	100435833	missense	probably benign	0.28
R3775:C2cd3	UTSW	7	100431998	missense	probably damaging	1.00
R3854:C2cd3	UTSW	7	100454601	critical splice acceptor site	probably null
R4359:C2cd3	UTSW	7	100441089	missense	probably damaging	1.00
R4403:C2cd3	UTSW	7	100432099	missense	probably damaging	1.00
R4446:C2cd3	UTSW	7	100374477	missense	probably damaging	1.00
R4646:C2cd3	UTSW	7	100372450	unclassified	probably benign
R4705:C2cd3	UTSW	7	100395188	missense	possibly damaging	0.77
R4770:C2cd3	UTSW	7	100443435	missense	probably damaging	1.00
R4777:C2cd3	UTSW	7	100416332	missense	possibly damaging	0.46
R4816:C2cd3	UTSW	7	100391019	missense	probably benign	0.01
R4842:C2cd3	UTSW	7	100416190	missense	probably benign	0.00
R4858:C2cd3	UTSW	7	100454953	missense	probably damaging	1.00
R4871:C2cd3	UTSW	7	100413374	missense	possibly damaging	0.79
R4898:C2cd3	UTSW	7	100405959	missense	probably damaging	1.00
R5026:C2cd3	UTSW	7	100459842	missense	possibly damaging	0.52
R5112:C2cd3	UTSW	7	100443485	missense	possibly damaging	0.91
R5242:C2cd3	UTSW	7	100390166	missense	probably benign	0.01
R5538:C2cd3	UTSW	7	100455493	critical splice donor site	probably null
R5861:C2cd3	UTSW	7	100444475	unclassified	probably benign
R6110:C2cd3	UTSW	7	100441076	missense	probably damaging	1.00
R6326:C2cd3	UTSW	7	100416428	missense	probably benign	0.02
R6429:C2cd3	UTSW	7	100432091	missense	probably damaging	1.00
R6610:C2cd3	UTSW	7	100455298	missense	probably benign
R6613:C2cd3	UTSW	7	100395241	missense	possibly damaging	0.87
R6631:C2cd3	UTSW	7	100418540	missense	probably damaging	1.00
R6787:C2cd3	UTSW	7	100455346	missense	probably benign
R6837:C2cd3	UTSW	7	100448746	missense	probably damaging	1.00
R6849:C2cd3	UTSW	7	100406927	missense	probably damaging	1.00
R6860:C2cd3	UTSW	7	100390241	missense	probably benign	0.28
R6929:C2cd3	UTSW	7	100451619	missense	probably damaging	1.00
R7026:C2cd3	UTSW	7	100432092	missense	probably damaging	1.00
R7088:C2cd3	UTSW	7	100416181	missense
R7174:C2cd3	UTSW	7	100432198	missense
R7241:C2cd3	UTSW	7	100407050	missense
R7335:C2cd3	UTSW	7	100422603	missense
R7357:C2cd3	UTSW	7	100430103	missense
R7493:C2cd3	UTSW	7	100427226	missense
R7567:C2cd3	UTSW	7	100430815	missense
R7573:C2cd3	UTSW	7	100419707	missense
R7869:C2cd3	UTSW	7	100469491	missense	probably damaging	0.99
R7999:C2cd3	UTSW	7	100459889	critical splice donor site	probably null
R8134:C2cd3	UTSW	7	100418504	missense
R8369:C2cd3	UTSW	7	100395258	missense	probably benign	0.03
R8372:C2cd3	UTSW	7	100455280	nonsense	probably null
X0002:C2cd3	UTSW	7	100440235	missense	possibly damaging	0.50

Predicted Primers

Posted On

2014-03-28